Results 61 to 70 of about 38,246 (331)

Conference scene : Golden Helix Pharmacogenomics Days : educational activities on pharmacogenomics and personalized medicine [PDF]

open access: yes, 2012
The Golden Helix Pharmacogenomics Days are high-profile international educational scientific meetings discussing pharmacogenomics and personalized medicine.
Borg, Joseph J.   +5 more
core   +2 more sources

Prevalence of hemoglobinopathies in pregnant women, Sancti Spíritus province

open access: yesUniversidad Médica Pinareña, 2020
Introduction: hemoglobinopathies are a group of genetic diseases, caused by disorders in the structure of hemoglobin chains. The Cuban National Health System's priority is the early diagnosis of these diseases.
Abel Ernesto Luna-López   +4 more
doaj   +2 more sources

Screening for thalassemia and other hemoglobinopathies in a tertiary care hospital of West Bengal: Implications for population screening

open access: yesIndian Journal of Public Health, 2012
Hemoglobinopathies are common genetic disorders of hemoglobin, which can be prevented by population screening and offering genetic counseling. In absence of population-based screening for hemoglobinopathies, the hospital-based diagnosis register provide ...
Bhawna Bhutoria Jain   +5 more
doaj   +1 more source

Spectrum of hemoglobinopathies in a tertiary care centre

open access: yesJournal of Pathology of Nepal, 2020
Background: Thalassemia and other structural hemoglobinopathies are the most common single gene disorders throughout the world with the highest frequency in the tropics, subtropics, Mediterranean basin and Southeast Asia.
Nisha Sharma   +2 more
doaj   +1 more source

Supramolecular nanosubstrate–mediated delivery system enables CRISPR-Cas9 knockin of hemoglobin beta gene for hemoglobinopathies

open access: yesScience Advances, 2020
CRISPR-Cas9 knockin of the HBB gene paves the way for a general therapeutic solution for treating hemoglobinopathies. Leveraging the endogenous homology-directed repair (HDR) pathway, the CRISPR-Cas9 gene-editing system can be applied to knock in a ...
Peng Yang   +24 more
semanticscholar   +1 more source

Haplotypes, sub-haplotypes and geographical distribution in Omani patients with sickle cell disease

open access: yesThalassemia Reports, 2015
Despite the fact that patients homozygous for the sickle cell disease (SCD) mutation have an identical genotype, the severity of the disease can be extremely variable.
Suha Mustafa Hassan   +6 more
doaj   +1 more source

Inherited hemolytic disorders with high occurrence of b-thalassemia in Sindhi community of Jabalpur town in Madhya Pradesh, India [PDF]

open access: yes, 2010
Hereditary hemolytic disorders such as hemoglobin disorders, β-thalassemia syndrome, G6PD deficiency, and ABO and Rhesus blood groups are the most common public health problems in India.
Balgir, RS
core   +1 more source

Single‐Position Peptide Clustering for Peptidomics Reveals Novel Disease Biomarkers and Dysregulated Proteolytic Characteristics

open access: yesAdvanced Science, EarlyView.
A novel amino acid (aa)‐score‐based single‐position peptide clustering strategy is developed for peptidomics, enabling precise profiling of protein proteolysis in plasma from β‐thalassemia cohort. The method identifies new aa position‐based peptide cluster biomarkers validated by heavy‐labeled peptides, visualizes aggregated changes, uncovers disease ...
Na Li   +13 more
wiley   +1 more source

The Virginia Sickle Cell Anemia Awareness Program: Education, Screening, and Counseling [PDF]

open access: yes, 1977
In 1968, a program of screening for sickle trait carriers was begun as part of the work of the Hematology Division, Department of Medicine, at the Medical College of Virginia.
Cooper, Florence N., Scott, Robert B.
core   +1 more source

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